Dento-osseous anomalies in patients with familial adenomatous polyposis: A follow-up study

• DOI: 10.1007/s00784-020-03220-9
• Publication Date: 2020-02-06T09:03:01Z
• Authors: Fabiana Tolentino...; André Ferreira Leite; Paulo Tadeu de So...; Pollyanna Almeida...; Erica Carine Camp...; Juliana Forte Mazzeu; João Batista Sousa; Robert Pogue; Ana Carolina Acevedo; Eliete Neves Silv...
• Keywords: 0301 basic medicine; 03 medical and health sciences; Adenomatous Polyposis Coli; Radiography, Panoramic; Humans; Longitudinal Studies; Brazil; Follow-Up Studies; 3. Good health

The aim of this longitudinal study was to characterize the dento-osseous phenotype of eleven familial adenomatous polyposis (FAP) patients and twenty-two family members from four Brazilian families who were followed over nine years and to investigate adenomatous polyposis coli (APC) gene variants using a targeted next-generation sequencing approach.Medical and dental history, oral examination, and panoramic radiography were performed to diagnose and follow up the dento-osseous anomalies. The anomalies were evaluated following the validated diagnostic tool dental panoramic radiographic score (DPRS), a system developed for high-risk FAP patients. Patients diagnosed with dento-osseous anomalies underwent cone-beam computed tomography. For genetic analysis, DNA was isolated from patients' saliva.Dento-osseous anomalies were identified in ten of the eleven FAP patients by panoramic radiograph evaluation. DPRS ≥ 7 (significant changes) was found in 81.8% (9/11) of FAP patients. The follow-up showed an increase in osseous jaw lesions in two young patients during adolescence. Dento-osseous anomalies were not found in non-FAP patients. A novel heterozygous nonsense pathogenic variant in APC exon 5 (c.481C > T; p.Gln161*) was identified in family 2, and a heterozygous splice-site pathogenic variant was identified in family 1 (c.532-1G > A).Our study expands the mutation spectrum of the APC gene and provides evidence that dento-osseous screening by imaging is a putative tool for early diagnosis of FAP. Also, the detection of dento-osseous anomalies in young patients with increasing osseous lesions during adolescence highlights the need for dental follow-up of high-risk FAP children.Dental radiographs are important for the screening and the follow-up of dento-osseous anomalies associated with FAP. It can also contribute to the early diagnosis of the disease.